A missense mutation of the Na ⁺ channel α _II subunit gene <i>Na</i> _v <i>1.2</i> in a patient with febrile and afebrile seizures causes channel dysfunction

Abstract excerpt

Generalized epilepsy with febrile seizures plus (GEFS+), a clinical subset of febrile seizures (FS), is characterized by frequent episodes beyond 6 years of age (FS+) and various types of subsequent epilepsy. Mutations in beta1 and alpha(I)-subunit genes of voltage-gated Na(+) channels have been associated with GEFS+1 and 2, respectively. Here, we report a mutation resulting in an amino acid exchange (R188W)...

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